chromosome 22q11.2 deletion syndrome, distal
Information
- Disease name
- chromosome 22q11.2 deletion syndrome, distal
- Disease ID
- DOID:0060413
- Description
- "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 22q11.2 region, distinct from DiGeorge syndrome and velocardiofacial syndrome." [url:https\://pubmed.ncbi.nlm.nih.gov/18179902/, url:https\://research.nhgri.nih.gov/atlas/condition/22q11-2-deletion-syndrome]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0060388
- Cross Reference ID (Disease Ontology)
- MESH:C567511
- Cross Reference ID (Disease Ontology)
- MIM:611867
- Cross Reference ID (Disease Ontology)
- ORDO:261330
- Exact Synonym (Disease Ontology)
- DiGeorge syndrome and Velocardiofacial syndrome
- Exact Synonym (Disease Ontology)
- distal 22q11.2 microdeletion syndrome